A rare case of end-stage kidney disease was discovered in a young boy with Fabry disease, a case study reported. In such cases of unexplained kidney failure in children, a detailed family history should be taken, and Fabry considered a possible cause, the researchers recommended. The case study, “…
A tissue analysis technique called CARS microscopy could be useful for identifying heart involvement in Fabry disease, according to a new study. Fully known as Coherent anti-Stokes Raman microscopy, the technique “allows early, reliable and efficient detection of [Fabry]-triggered alterations in affected organs,” such as the heart, the researchers…
The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference…
Galafold (migalastat) is generally safe and significantly reduces disease-associated heart enlargement in Fabry disease patients carrying Galafold-amenable mutations, according to two-year data from a real-life, multicenter study in Germany. These benefits were generally similar between patients who had previously received standard enzyme replacement therapy (ERT) and those who…
Many Fabry disease patients with heart involvement develop a slow and irregular heartbeat, called bradyarrhythmia, late in the disease course when heart damage is already advanced, according to a small study in Italy. The finding adds to previous studies reporting bradyarrhythmia as a late symptom of Fabry, discouraging…
A variant in the GLA gene associated with Fabry disease was found in four women with Parkinson’s disease, but they had no Fabry symptoms, according to results from a study of 236 Parkinson’s patients. According to the research team, the significance of the mutation and the relationship between the two…
The case of a man with Fabry disease that co-occurred with a rare autoimmune kidney disorder was described in a recent report. While it’s possible that the rare combination was coincidental, researchers speculated that damage to the kidneys resulting from Fabry disease might have set the stage for the…
A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ultimately brought the group of eight by car to temporary accommodations in neighboring Poland last month was physically and emotionally difficult,…
Two years of treatment with the experimental enzyme replacement therapy PRX-102 (pegunigalsidase alfa) prevented kidney decline in adults with Fabry disease and showed safety and effectiveness similar to Fabrazyme (agalsidase beta), top-line data from the BALANCE Phase 3 clinical trial show. In addition to meeting the trial’s primary goal…
People with classic Fabry disease due to a common disease-causing mutation who don’t smoke can still have poorer lung health and symptoms like dry cough and shortness of breath, but these symptoms can stabilize with enzyme replacement therapy (ERT), a small study in Finland suggests. These findings, in a group…
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